PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for June, 2005

June 30, 2005

New Entries:

300547 MST3- AND SOK1-RELATED KINASE

609455 PROLINE-, GLUTAMIC ACID-, AND LEUCINE-RICH PROTEIN 1

Changed Entries:

116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A

133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1

138246 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 4; GRIA4

138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2

138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1

147421 INCLUSION BODY MYOSITIS

163950 NOONAN SYNDROME 1; NS1

164810 V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOG; FOS

179050 PYRUVATE KINASE, MUSCLE, 2; PKM2

190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1

193067 FRIEND LEUKEMIA VIRUS INTEGRATION 1; FLI1

255160 MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE

305915 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3

540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE

600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1

600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2

603680 SCA8 GENE; SCA8

603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB

603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE

604281 ACTIVATOR OF S-PHASE KINASE

604294 VENTRAL ANTERIOR HOMEOBOX 1; VAX1

604295 VENTRAL ANTERIOR HOMEOBOX 2; VAX2

605100 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, DELTA ISOFORM; PPM1D

605247 LEUCINE-RICH REPEATS- AND DEATH DOMAIN-CONTAINING PROTEIN; LRDD

605637 INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT; IBM3

605906 LIM DOMAIN-BINDING 3; LDB3

607861 DAPPER, ANTAGONIST OF BETA-CATENIN, 1; DACT1

June 29, 2005

New Entries:

609453 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 7; GOLGA7

Clinical Synopsis for 602440 AMYOTROPHY, MONOMELIC

Changed Entries:

118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1

160800 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT

191840 PLASMINOGEN ACTIVATOR, URINARY; PLAU

204700 AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE

255700 MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE

601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM

601199 CALCIUM-SENSING RECEPTOR; CASR

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1

601656 GATA-BINDING PROTEIN 6; GATA6

602440 AMYOTROPHY, MONOMELIC

604629 MATRIX METALLOPROTEINASE 20; MMP20

605353 GHRELIN

605552 ABDOMINAL OBESITY-METABOLIC SYNDROME

605747 ARH GENE; ARH

Clinical Synopsis for 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

June 28, 2005

New Entries:

609441 CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES

609442 VALPROATE EMBRYOPATHY, SUSCEPTIBILITY TO

609446 GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD

609448 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 12; TXNDC12

609449 NUDE, A. NIDULANS, HOMOLOG OF, 1; NDE1

609450 MAX DIMERIZATION PROTEIN 3; MXD3

609451 ZINC FINGER PROTEIN 90, MOUSE, HOMOLOG OF; ZFP90

Clinical Synopsis for 609438 MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL

Clinical Synopsis for 609439 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48

Changed Entries:

105830 ANGELMAN SYNDROME; AS

109350 GASTROESOPHAGEAL REFLUX

114021 CADHERIN 3; CDH3

131320 GATA-BINDING PROTEIN 3; GATA3

143100 HUNTINGTON DISEASE; HD

164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176807 PROSTATE CANCER

180200 RETINOBLASTOMA; RB1

188550 THYROID CARCINOMA, PAPILLARY

191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

209850 AUTISM

225280 EEM SYNDROME

311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

600150 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY

600746 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 1; CDX1

600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B

600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2

600957 ANTI-MULLERIAN HORMONE; AMH

600983 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2

601040 SCAVENGER RECEPTOR CLASS B, MEMBER 1; SCARB1

601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT;

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8

602581 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 3; GOLGA3

603248 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB; BMPR1B

604001 A-KINASE ANCHOR PROTEIN 9; AKAP9

605309 MACROCEPHALY/AUTISM SYNDROME

605405 USP6 N-TERMINAL-LIKE; USP6NL

605523 TRANSDUCER OF ERBB2, 1; TOB1

606456 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 3; NPM3

606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1

607318 LYSYL OXIDASE-LIKE 4; LOXL4

607538 NDE1-LIKE 1; NDEL1

607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K

607882 G PROTEIN-COUPLED RECEPTOR 41

607883 G PROTEIN-COUPLED RECEPTOR 42

608510 EWS/FLI1-ACTIVATED TRANSCRIPT 2

608528 CELL DIVISION CYCLE 91, S. CEREVISIAE, HOMOLOG-LIKE 1; CDC91L1

609361 PREIMPLANTATION PROTEIN 3, MOUSE, HOMOLOG OF; PREI3

609438 MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL

609439 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48

609442 VALPROATE EMBRYOPATHY, SUSCEPTIBILITY TO

Clinical Synopsis for 601868 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 13; DFNA13

June 27, 2005

New Entries:

609440 UTP11-LIKE PROTEIN; UTP11L

609443 ELASTASE 2A

609444 ELASTASE 2B

609445 RELAXIN 3 RECEPTOR 1; RLN3R1

609447 PROAPOPTOTIC CASPASE ADAPTOR PROTEIN

Changed Entries:

114240 CALPAIN 3; CAPN3

120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1

139320 GNAS COMPLEX LOCUS; GNAS

153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA

602956 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9

603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB

603666 SYNTAXIN 16; STX16

605386 MICRO RNA LET7A1; MIRNLET7A1

605608 CLAUDIN 14; CLDN14

606401 CALPAIN 9; CAPN9

606402 GASTROKINE 1; GKN1

606855 RELAXIN 3; RLN3

609043 RELAXIN 3 RECEPTOR 2; RLN3R2

609436 FIBROBLAST GROWTH FACTOR 21; FGF21

Clinical Synopsis for 167210 PACHYONYCHIA CONGENITA, TYPE 2; PC2

June 24, 2005

New Entries:

609437 SERINE/THREONINE PROTEIN KINASE 40; STK40

609438 MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL

609439 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48

Changed Entries:

115440 CASEIN KINASE II, ALPHA-1; CSNK2A1

122200 CORNEAL DYSTROPHY, LATTICE TYPE I; CDL1

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND

147050 IgE RESPONSIVENESS, ATOPIC; IGER

160777 MYOSIN VA; MYO5A

182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4

194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS

311360 PREMATURE OVARIAN FAILURE 1; POF1

313650 TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,

600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2

600503 ACTIVATED RNA POLYMERASE II TRANSCRIPTION COFACTOR 4

601156 CHEMOKINE, CC MOTIF, LIGAND 11; CCL11

601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI

602495 CHEMOKINE, CC MOTIF, LIGAND 24; CCL24

606526 MELANOPHILIN; MLPH

606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET

608105 EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND

609227 GRISCELLI SYNDROME, TYPE 3; GS3

609428 TUKEL SYNDROME

Clinical Synopsis for 300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

June 23, 2005

New Entries:

609432 SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD

609436 FIBROBLAST GROWTH FACTOR 21; FGF21

Clinical Synopsis for 605594 DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1

Clinical Synopsis for 609162 CZECH DYSPLASIA, METATARSAL TYPE

Changed Entries:

105650 DIAMOND-BLACKFAN ANEMIA; DBA

114000 CAFFEY DISEASE

124092 INTERLEUKIN 10; IL10

146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH

147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA

152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5

164210 HEMIFACIAL MICROSOMIA; HFM

165500 OPTIC ATROPHY 1; OPA1

167200 PACHYONYCHIA CONGENITA, TYPE 1; PC1

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

180300 RHEUMATOID ARTHRITIS; RA

185900 SYNDACTYLY, TYPE I

191160 TUMOR NECROSIS FACTOR; TNF

205600 MOVED TO 105650

205900 MOVED TO 105650

218700 THYROID DYSGENESIS

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

227650 FANCONI ANEMIA; FA

248340 MALPUECH FACIAL CLEFTING SYNDROME

274400 THYROID HORMONOGENESIS, GENETIC DEFECT IN, I

274600 PENDRED SYNDROME; PDS

275200 THYROTROPIN RESISTANCE

300292 FORKHEAD BOX P3; FOXP3

303630 COLLAGEN, TYPE IV, ALPHA-5; COL4A5

303631 COLLAGEN, TYPE IV, ALPHA-6; COL4A6

600110 STARGARDT DISEASE 3; STGD3

600576 GATA-BINDING PROTEIN 4; GATA4

600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E

601942 DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10

602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;

602432 OPTINEURIN; OPTN

603474 RIBOSOMAL PROTEIN S19; RPS19

603715 GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 1; GCM1

603716 GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 2; GCM2

604183 CHOLESTEATOMA, CONGENITAL

605290 OPA1 GENE; OPA1

605380 FIBROBLAST GROWTH FACTOR 23; FGF23

605512 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4; ELOVL4

605594 DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1

606608 YES-ASSOCIATED PROTEIN 1, 65-KD; YAP1

607200 HYPOTHYROIDISM, CONGENITAL, DUE TO DUOX2 DEFICIENCY

607941 ATRIAL SEPTAL DEFECT 2; ASD2

609162 CZECH DYSPLASIA, METATARSAL TYPE

Clinical Synopsis for 108300 STICKLER SYNDROME, TYPE I; STL1

Clinical Synopsis for 120210 COLLAGEN, TYPE IX, ALPHA-1; COL9A1

Clinical Synopsis for 130000 EHLERS-DANLOS SYNDROME, TYPE I

Clinical Synopsis for 130020 EHLERS-DANLOS SYNDROME, TYPE III

Clinical Synopsis for 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT

Clinical Synopsis for 154780 MARSHALL SYNDROME

Clinical Synopsis for 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS

Clinical Synopsis for 166200 OSTEOGENESIS IMPERFECTA, TYPE I

Clinical Synopsis for 166210 OSTEOGENESIS IMPERFECTA CONGENITA; OIC

Clinical Synopsis for 166220 OSTEOGENESIS IMPERFECTA, TYPE IV

Clinical Synopsis for 184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE

Clinical Synopsis for 184840 STICKLER SYNDROME, TYPE III; STL3

Clinical Synopsis for 200610 ACHONDROGENESIS, TYPE II; ACG2

Clinical Synopsis for 211910 CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I; GCS1

Clinical Synopsis for 215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED

Clinical Synopsis for 221740 DEAFNESS-OLIGODONTIA SYNDROME

Clinical Synopsis for 221810 DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE

Clinical Synopsis for 224750 SCHOPF-SCHULZ-PASSARGE SYNDROME

Clinical Synopsis for 225320 EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM

Clinical Synopsis for 226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB

Clinical Synopsis for 239710 ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE

Clinical Synopsis for 245010 HAIM-MUNK SYNDROME; HMS

Clinical Synopsis for 259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE

Clinical Synopsis for 262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS

Clinical Synopsis for 267750 KNOBLOCH SYNDROME; KNO

Clinical Synopsis for 275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL

Clinical Synopsis for 277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS

Clinical Synopsis for 303630 COLLAGEN, TYPE IV, ALPHA-5; COL4A5

Clinical Synopsis for 303631 COLLAGEN, TYPE IV, ALPHA-6; COL4A6

Clinical Synopsis for 601813 EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL RECESSIVE

Clinical Synopsis for 601868 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 13; DFNA13

Clinical Synopsis for 604841 STICKLER SYNDROME, TYPE II; STL2

June 22, 2005

New Entries:

609428 DESNICK-WOLLNIK SYNDROME

609435 GENE ASSOCIATED WITH RETINOID- AND INTERFERON-INDUCED MORTALITY 19

Changed Entries:

106491 ANNEXIN A4; ANXA4

114070 ANNEXIN A6; ANXA6

114085 S100 CALCIUM-BINDING PROTEIN A10; S100A10

120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1

131230 ANNEXIN A5; ANXA5

141900 HEMOGLOBIN--BETA LOCUS; HBB

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

175200 PEUTZ-JEGHERS SYNDROME; PJS

212780 CENANI SYNDACTYLISM

268000 RETINITIS PIGMENTOSA; RP

300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER

300126 DYSKERIN; DKC1

300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN

311770 PHOSPHATIDYLINOSITOL GLYCAN, CLASS A; PIGA

480000 SEX-DETERMINING REGION Y; SRY

516001 COMPLEX I, SUBUNIT ND2; MTND2

601665 OBESITY

602216 SERINE/THREONINE PROTEIN KINASE 11; STK11

602572 ANNEXIN A11; ANXA11

602965 FATTY ACID-BINDING PROTEIN 7; FABP7

603220 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 3; KCNK3

603319 ANNEXIN A9; ANXA9

603937 RETINITIS PIGMENTOSA 1 GENE; RP1

606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL

608547 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1

608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY

608886 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, BETA;

June 21, 2005

New Entries:

609433 RECEPTOR-ASSOCIATED PROTEIN, 80-KD

609434 CISPLATIN RESISTANCE-ASSOCIATED OVEREXPRESSED PROTEIN

Changed Entries:

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

109200 ALOPECIA, ANDROGENETIC

113730 UNCOUPLING PROTEIN 1; UCP1

118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

121850 CORNEAL FLECK DYSTROPHY

127750 DEMENTIA, LEWY BODY; DLB

128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1

141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

147450 SUPEROXIDE DISMUTASE 1; SOD1

157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

163890 SYNUCLEIN, ALPHA; SNCA

174763 POLYMERASE, DNA, GAMMA; POLG

182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),

223340 DK PHOCOMELIA SYNDROME

234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN

300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1

300465 SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME-LIKE

309500 RENPENNING SYNDROME 1; RENS1

313700 ANDROGEN RECEPTOR; AR

601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A

601014 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 1; DLG1

602569 SYNUCLEIN, BETA; SNCB

603098 DEAFNESS, AUTOSOMAL RECESSIVE 13; DFNB13

605022 p21-ACTIVATED KINASE 2; PAK2

605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM

608096 EPILEPSY, FAMILIAL TEMPORAL LOBE

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

609414 PHOSPHATIDYLINOSITOL-3-PHOSPHATE 5-KINASE, TYPE III; PIP5K3

Clinical Synopsis for 125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III

June 20, 2005

New Entries:

609429 FORKHEAD BOX N4; FOXN4

609430 NEURONAL PAS DOMAIN PROTEIN 3; NPAS3

609431 MAP3K12-BINDING INHIBITORY PROTEIN; MBIP

Changed Entries:

125485 DENTIN SIALOPHOSPHOPROTEIN; DSPP

125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III

126375 DNA METHYLTRANSFERASE 1; DNMT1

134797 FIBRILLIN 1; FBN1

160900 DYSTROPHIA MYOTONICA 1

180550 RING DERMOID OF CORNEA; RDC

251280 MICROCEPHALY WITH SPASTIC QUADRIPLEGIA

300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2

300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1

300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

300534 MENTAL RETARDATION, X-LINKED, JARID1C-RELATED

309470 MOVED TO 309500

309500 RENPENNING SYNDROME 1; RENS1

309600 MOVED TO 300523

604832 CARBONIC ANHYDRASE XIV; CA14

605384 INTERLEUKIN 21; IL21

June 17, 2005

New Entries:

609425 3q29 MICRODELETION SYNDROME

609426 MISSHAPEN/NIK-RELATED KINASE 1; MINK1

609427 LHFP-LIKE PROTEIN 5; LHFPL5

Changed Entries:

100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE

123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP

134370 COMPLEMENT FACTOR H; CFH

142460 SYNDECAN 2; SDC2

142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A

142840 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, C; HLA-C

142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1

165380 RAS HOMOLOG GENE FAMILY, MEMBER C; ARHC

173470 INTEGRIN, BETA-3; ITGB3

186355 SYNDECAN 1; SDC1

186357 SYNDECAN 3; SDC3

191135 TUBULIN, GAMMA-1; TUBG1

193210 INTEGRIN, ALPHA-V; ITGAV

268300 ROBERTS SYNDROME; RBS

269000 SC PHOCOMELIA SYNDROME

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

600017 SYNDECAN 4; SDC4

600618 ETS VARIANT GENE 6; ETV6

601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR

601383 AQUAPORIN 6; AQP6

602121 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1; DIAPH1

603028 TOLL-LIKE RECEPTOR 2; TLR2

603116 CDAGS SYNDROME

603286 KISS1 METASTASIS SUPPRESSOR; KISS1

604102 GLUTAMATE RECEPTOR, METABOTROPIC, 5; GRM5

604161 G PROTEIN-COUPLED RECEPTOR 54; GPR54

604453 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 2; NR5A2

604558 INDUCIBLE T-CELL COSTIMULATOR; ICOS

605717 INDUCIBLE T-CELL COSTIMULATOR LIGAND; ICOSLG

606152 SOLUTE CARRIER FAMILY 19 (FOLATE TRANSPORTER), MEMBER 3; SLC19A3

606404 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-4 SUBUNIT; CACNG4

606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP

607483 BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9

608291 TUBULIN-TYROSINE LIGASE

609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO

June 16, 2005

New Entries:

609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO

609424 ROQUIN

Clinical Synopsis for 609304 MYOCLONIC EPILEPSY, NEONATAL, WITH SUPPRESSION-BURST PATTERN

Changed Entries:

124092 INTERLEUKIN 10; IL10

137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP

142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B

167050 OXYTOCIN; OXT

187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5

190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2

203450 ALEXANDER DISEASE

600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12

601179 RAS-RELATED NUCLEAR PROTEIN; RAN

601181 RAN-BINDING PROTEIN 2; RANBP2

601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

601470 CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1

601661 UBIQUITIN-CONJUGATING ENZYME E2I; UBE2I

601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1

602362 GTPase-ACTIVATING PROTEIN, RAN, 1; RANGAP1

602738 KARYOPHERIN BETA-1; KPNB1

604946 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC

605821 ERYTHROID-ASSOCIATED FACTOR; ERAF

609304 MYOCLONIC EPILEPSY, NEONATAL, WITH SUPPRESSION-BURST PATTERN

June 15, 2005

New Entries:

609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8

609413 EXCISION-REPAIR CROSS-COMPLEMENTING, COMPLEMENTATION GROUP 6; ERCC6

609415 CHROMOSOME 13 OPEN READING FRAME 25; C13ORF25

609416 MICRO RNA 17; MIRN17

609417 MICRO RNA 18; MIRN18

609418 MICRO RNA 19A; MIRN19A

609419 MICRO RNA 19B1; MIRN19B1

609420 MICRO RNA 20; MIRN20

609421 MICRO RNA 91

609422 MICRO RNA 92-1; MIRN92-1

Changed Entries:

109150 MACHADO-JOSEPH DISEASE; MJD

112261 BONE MORPHOGENETIC PROTEIN 2; BMP2

112266 BONE MORPHOGENETIC PROTEIN 6; BMP6

133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3

133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5

133540 COCKAYNE SYNDROME, TYPE B; CSB

138430 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 2; GPD2

147520 INOSINE TRIPHOSPHATASE; ITPA

147569 INTERFERON, GAMMA, RECEPTOR 2; IFNGR2

147570 INTERFERON, GAMMA; IFNG

147780 INTERLEUKIN 4; IL4

147800 AASE-SMITH SYNDROME I

153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD1

159900 MYOCLONIC DYSTONIA

160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

176640 PRION PROTEIN; PRNP

182283 CHEMOKINE, CC MOTIF, LIGAND 3; CCL3

188230 THY-1 T-CELL ANTIGEN; THY1

191170 TUMOR PROTEIN p53; TP53

209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL

214150 CEREBROOCULOFACIOSKELETAL SYNDROME

216400 COCKAYNE SYNDROME, TYPE A; CSA

220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1

225400 EHLERS-DANLOS SYNDROME, TYPE VI

254780 MYOCLONIC EPILEPSY OF LAFORA

255160 MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE

278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA

278800 DE SANCTIS-CACCHIONE SYNDROME

300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

301500 FABRY DISEASE

600072 FATAL FAMILIAL INSOMNIA; FFI

600630 UV-SENSITIVE SYNDROME; UVS

601019 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER

601451 NEVO SYNDROME

601684 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 1; RPS6KA1

602341 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 16; FKHL16

602495 CHEMOKINE, CC MOTIF, LIGAND 24; CCL24

602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1

603933 DIABETIC NEPHROPATHY, SUSCEPTIBILITY TO

604149 SARCOGLYCAN, EPSILON; SGCE

604611 RECQ PROTEIN-LIKE 2; RECQL2

605566 RETICULON 4 RECEPTOR; RTN4R

606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2

606129 DIAMOND-BLACKFAN ANEMIA 2

606210 SELENOPROTEIN N, 1; SEPN1

606560 SPERM-ASSOCIATED ANTIGEN 11; SPAG11

607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO

607591 SERUM/GLUCOCORTICOID-REGULATED KINASE-LIKE PROTEIN; SGKL

607741 TBC1 DOMAIN FAMILY, MEMBER 3; TBC1D3

608072 NHL REPEAT-CONTAINING 1 GENE; NHLRC1

608358 MYOPATHY, MYOSIN STORAGE

608732 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 8; SLC39A8

609204 MITOCHONDRIAL RIBOSOMAL PROTEIN S16: MRPS16

609352 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA

609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4

609415 CHROMOSOME 13 OPEN READING FRAME 25; C13ORF25

June 14, 2005

Changed Entries:

104160 GLUCOSIDASE, ALPHA, NEUTRAL AB; GANAB

104180 GLUCOSIDASE, ALPHA, NEUTRAL C; GANC

107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1

147569 INTERFERON, GAMMA, RECEPTOR 2; IFNGR2

161200 NAIL-PATELLA SYNDROME; NPS

164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF

166710 OSTEOPOROSIS, INVOLUTIONAL

177060 PROTEIN KINASE C SUBSTRATE, 80-KD, HEAVY CHAIN; PRKCSH

191170 TUMOR PROTEIN p53; TP53

232300 GLYCOGEN STORAGE DISEASE II

246300 LEPROSY, SUSCEPTIBILITY TO

300082 COGNITIVE FUNCTION 1, SOCIAL; CGF1

601862 MOVED TO 104160

601864 MOVED TO 177060

603205 MICRORCHIDIA, MOUSE, HOMOLOG OF; MORC

606463 GLUCOSIDASE, BETA, ACID; GBA

606619 GLUCOSIDASE, BETA, ACID 3; GBA3

606800 GLUCOSIDASE, ALPHA, ACID; GAA

609146 RIC8, C. ELEGANS, HOMOLOG OF, A

June 13, 2005

New Entries:

609414 PHOSPHATIDYLINOSITOL-3-PHOSPHATE 5-KINASE, TYPE III; PIP5K3

Changed Entries:

103260 FERREDOXIN 1; FDX1

103270 FERREDOXIN REDUCTASE; FDXR

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

125265 DELETED IN POLYPOSIS 1

126063 DIHYDROLIPOAMIDE S-SUCCINYLTRANSFERASE; DLST

147460 SUPEROXIDE DISMUTASE 2; SOD2

147760 INTERLEUKIN 1-ALPHA; IL1A

150330 LAMIN A/C; LMNA

154030 NUCLEASE-SENSITIVE ELEMENT-BINDING PROTEIN 1; NSEP1

176930 COAGULATION FACTOR II; F2

180860 SILVER-RUSSELL SYNDROME; SRS

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

203740 ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

214700 CHLORIDE DIARRHEA, FAMILIAL; CLD

227400 FACTOR V DEFICIENCY

238331 DIHYDROLIPOAMIDE DEHYDROGENASE; DLD

245200 KRABBE DISEASE

245349 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

246900 MOVED TO 238331

248600 MAPLE SYRUP URINE DISEASE

248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT

248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB

256000 LEIGH SYNDROME; LS

258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

300502 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1

312170 PYRUVATE DECARBOXYLASE DEFICIENCY

510000 REMOVED FROM DATABASE

600129 PHOSPHODIESTERASE 4D, cAMP-SPECIFIC; PDE4D

601367 STROKE, ISCHEMIC

602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1

602950 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 2;

602958 SERUM/GLUCOCORTICOID-REGULATED KINASE; SGK

603489 CARTILAGE INTERMEDIATE LAYER PROTEIN; CILP

603865 GLUTAMINE:FRUCTOSE-6-PHOSPHATE AMIDOTRANSFERASE 2; GFPT2

603932 INTERVERTEBRAL DISC DISEASE; IDD

605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607196 MICROCEPHALY, AMISH TYPE; MCPHA

608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA

608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX

608770 DIHYDROLIPOAMIDE S-ACETYLTRANSFERASE; DLAT

609410 SYNAPTOJANIN 2; SYNJ2

Clinical Synopsis for 248600 MAPLE SYRUP URINE DISEASE

June 10, 2005

New Entries:

609384 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B; CFEOM3B

609409 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A0; HNRPA0

609410 SYNAPTOJANIN 2; SYNJ2

609411 SYNAPTOJANIN 2-BINDING PROTEIN; SYNJ2BP

Changed Entries:

135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1

255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

300110 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F

600124 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2/B1; HNRPA2B1

600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3; CFEOM3

600650 CARNITINE PALMITOYLTRANSFERASE II; CPT2

602078 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2

602869 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U; HNRPU

607034 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A; CFEOM3A

607342 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 1; CPEB1

607760 DNA TOPOISOMERASE II-BINDING PROTEIN 1; TOPBP1

608283 KINESIN FAMILY MEMBER 21A; KIF21A

608637 SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE

609409 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A0; HNRPA0

Clinical Synopsis for 141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

June 9, 2005

New Entries:

609407 HEPARAN SULFATE 3-O-SULFOTRANSFERASE 5; HS3ST5

609408 HOLOPROSENCEPHALY 8; HPE8

Changed Entries:

123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1

134797 FIBRILLIN 1; FBN1

142945 HOLOPROSENCEPHALY 3; HPE3

142946 HOLOPROSENCEPHALY 4; HPE4

155720 MELANOMA, UVEAL

157170 HOLOPROSENCEPHALY 2; HPE2

174700 POLYDACTYLY, PREAXIAL IV

180550 RING DERMOID OF CORNEA; RDC

182331 ATPase, Na+/K+ TRANSPORTING, BETA-2 POLYPEPTIDE; ATP1B2

189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1

191040 TROPONIN C, SLOW; TNNC1

201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2

208400 ASPARTYLGLUCOSAMINURIA

222800 DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE

227010 ERMINE PHENOTYPE

229000 PREKALLIKREIN DEFICIENCY

229600 FRUCTOSE INTOLERANCE, HEREDITARY

233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,

236100 HOLOPROSENCEPHALY

243500 ISOVALERIC ACIDEMIA; IVA

246600 LIPASE, CONGENITAL ABSENCE OF PANCREATIC

253000 MUCOPOLYSACCHARIDOSIS TYPE IVA

253200 MUCOPOLYSACCHARIDOSIS TYPE VI

261630 PHENYLKETONURIA II

261670 PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF

276600 TYROSINE TRANSAMINASE DEFICIENCY

305371 GATA-BINDING PROTEIN 1; GATA1

309850 MONOAMINE OXIDASE A; MAOA

600725 SONIC HEDGEHOG; SHH

601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH

601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2

602630 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR; TGIF

603073 ZINC FINGER PROTEIN OF CEREBELLUM, 2; ZIC2

603714 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 3; SIX3

604418 GAP JUNCTION PROTEIN, BETA-6; GJB6

606230 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3; SHANK3

608516 MAJOR DEPRESSIVE DISORDER; MDD

609397 STORKHEAD BOX 1; STOX1

609402 PREECLAMPSIA/ECLAMPSIA 2; PEE2

609405 GTPase-ACTIVATING PROTEIN, RHO, 8; ARHGAP8

609407 HEPARAN SULFATE 3-O-SULFOTRANSFERASE 5; HS3ST5

June 8, 2005

New Entries:

609397 STORKHEAD BOX 1; STOX1

609402 PREECLAMPSIA/ECLAMPSIA 2; PEE2

609403 PREECLAMPSIA/ECLAMPSIA 3; PEE3

609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4

609405 GTPase-ACTIVATING PROTEIN, RHO, 8; ARHGAP8

609406 PROLINE-RICH PROTEIN 5

Changed Entries:

106150 ANGIOTENSIN I; AGT

108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS

114290 CAMPOMELIC DYSPLASIA

132810 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1

142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA

150330 LAMIN A/C; LMNA

160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7

173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1

210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II

211890 CAMPOMELIA, CUMMING TYPE

300166 OCULOFACIOCARDIODENTAL SYNDROME

300412 MICROPHTHALMIA WITH ASSOCIATED ANOMALIES 2

300485 BCL6 COREPRESSOR; BCOR

305400 FACIOGENITAL DYSPLASIA

306700 HEMOPHILIA A

600576 GATA-BINDING PROTEIN 4; GATA4

600985 TENASCIN-XB; TNXB

601224 POTOCKI-SHAFFER SYNDROME

601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1

604201 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI

606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607561 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES

607941 ATRIAL SEPTAL DEFECT 2; ASD2

608160 SRY-BOX 9; SOX9

609397 STORKHEAD BOX 1; STOX1

609402 PREECLAMPSIA/ECLAMPSIA 2; PEE2

609403 PREECLAMPSIA/ECLAMPSIA 3; PEE3

609405 GTPase-ACTIVATING PROTEIN, RHO, 8; ARHGAP8

June 7, 2005

New Entries:

300545 HEPARAN SULFATE 6-O-SULFOTRANSFERASE 2; HS6ST2

609401 HEPARAN SULFATE 6-O-SULFOTRANSFERASE 3; HS6ST3

Changed Entries:

117550 SOTOS SYNDROME

140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE

141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1

141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2

141900 HEMOGLOBIN--BETA LOCUS; HBB

147579 INTERFERON, ALPHA-14; IFNA14

147583 INTERFERON, ALPHA-17; IFNA17

153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1

190685 DOWN SYNDROME

273300 TESTICULAR TUMORS

600538 PEROXIREDOXIN 2; PRDX2

600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E

603903 SICKLE CELL ANEMIA

604824 KLOTHO; KL

604846 HEPARAN SULFATE 6-O-SULFOTRANSFERASE 1; HS6ST1

605195 MESODERM POSTERIOR 2

606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX

609385 DEAD END, ZEBRAFISH, HOMOLOG OF, 1; DND1

June 6, 2005

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

145500 HYPERTENSION, ESSENTIAL

171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1

173870 ADP-RIBOSYLTRANSFERASE; ADPRT

176872 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1

190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB

227650 FANCONI ANEMIA; FA

600992 ANOPHTHALMIA/MICROPHTHALMIA AND ESOPHAGEAL ATRESIA; AMEA

601342 CHROMOSOME SEGREGATION 1-LIKE; CSE1L

602054 T-BOX 1; TBX1

603099 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 1; AGPAT1

604457 SP110 NUCLEAR BODY PROTEIN; SP110

605047 INTERFERON REGULATORY FACTOR 7; IRF7

605051 CANNABINOID RECEPTOR 2; CNR2

605608 CLAUDIN 14; CLDN14

607047 ATAXIN 3; ATXN3

607108 PAIRED BOX GENE 6; PAX6

607139 FANCA GENE; FANCA

June 3, 2005

Changed Entries:

107776 AQUAPORIN 1; AQP1

114500 COLORECTAL CANCER; CRC

143100 HUNTINGTON DISEASE; HD

147910 KALLIKREIN 1; KLK1

164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA

190685 DOWN SYNDROME

208250 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP

235200 HEMOCHROMATOSIS; HFE

241200 BARTTER SYNDROME, ANTENATAL, TYPE 2

246300 LEPROSY, SUSCEPTIBILITY TO

300139 IMMUNOGLOBULIN-BINDING PROTEIN 1; IGBP1

600359 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1

600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2

600816 HEAT-SHOCK 70-KD PROTEIN 8; HSPA8

601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4

604025 AXIS INHIBITOR 2; AXIN2

604274 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 1; KLRA1

604283 PROTEOGLYCAN 4; PRG4

604320 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1

604638 ACTININ, ALPHA-4; ACTN4

605488 cAMP-REGULATED PHOSPHOPROTEIN, 21-KD

605502 ZUOTIN-RELATED FACTOR 1; ZRF1

605900 PDZ AND LIM DOMAIN PROTEIN 1; PDLIM1

606201 WFS1 GENE; WFS1

608220 SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE; SPG25

609383 ICHTHYIN

609395 SPINDLE POLE BODY COMPONENT 25, S. CEREVISIAE, HOMOLOG OF; SPBC25

609398 ATPase, H+ TRANSPORTING, LYSOSOMAL, 34-KD, V1 SUBUNIT D; ATP6V1D

June 2, 2005

New Entries:

609399 SPERM EQUATORIAL SEGMENT PROTEIN 1; SPESP1

609400 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4

Changed Entries:

118450 ALAGILLE SYNDROME; AGS

190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1

190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2

193200 VITILIGO

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

600008 NICOTINAMIDE N-METHYLTRANSFERASE; NNMT

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

601124 SEMAPHORIN 3F; SEMA3F

601805 G PROTEIN-COUPLED RECEPTOR 30; GPR30

602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2

602876 OCCLUDIN; OCLN

603166 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 2; MAP4K2

603273 TUMOR PROTEIN p73-LIKE; TP73L

603687 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A2; ALDH1A2

604090 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 5; DLG5

606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A

606808 MYOSIN IIIA; MYO3A

607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A

607491 PROTEIN O-FUCOSYLTRANSFERASE 1; POFUT1

608666 PEROXISOME BIOGENESIS FACTOR 26; PEX26

609389 INOSITOL POLYPHOSPHATE 5-PHOSPHATASE F; INPP5F

609399 SPERM EQUATORIAL SEGMENT PROTEIN 1; SPESP1

June 1, 2005

Changed Entries:

104311 PRESENILIN 1; PSEN1

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

109150 MACHADO-JOSEPH DISEASE; MJD

109691 BETA-3-ADRENERGIC RECEPTOR; ADRB3

135150 BIRT-HOGG-DUBE SYNDROME; BHD

164210 HEMIFACIAL MICROSOMIA; HFM

164400 SPINOCEREBELLAR ATAXIA 1; SCA1

164500 SPINOCEREBELLAR ATAXIA 7; SCA7

167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL

172250 PHOSPHOGLYCERATE MUTASE 1; PGAM1

182100 FUCOSYLTRANSFERASE 2; FUT2

182309 SOLUTE CARRIER FAMILY 34 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER

183086 SPINOCEREBELLAR ATAXIA 6; SCA6

183090 SPINOCEREBELLAR ATAXIA 2; SCA2

188545 THYROTROPIN-RELEASING HORMONE RECEPTOR; TRHR

256731 CEROID LIPOFUSCINOSIS, NEURONAL 5; CLN5

261670 PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF

313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

600861 REGULATOR OF G PROTEIN SIGNALING 2; RGS2

601665 OBESITY

603325 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9B; PPP1R9B

604475 RETICULON 4; RTN4

607273 FOLLICULIN; FLCN

607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3

608102 CLN5 GENE; CLN5

609080 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 13; FBXL13